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FLASH GENE
Symbol PCSK6 contributors: mct - updated : 05-09-2014
HGNC name proprotein convertase subtilisin/kexin type 6
HGNC id 8569
Location 15q26.3      Physical location : 101.844.133 - 102.030.187
Synonym name
  • paired basic amino acid cleaving system 4
  • subtilisin-like proprotein convertase 4
  • Synonym symbol(s) SPC4, PACE4
    EC.number 3.4.21.-
    DNA
    TYPE functioning gene
    STRUCTURE 186.05 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located close (within 5 Mgb) to PACE
    RNA
    TRANSCRIPTS type messenger
    text with many alternatively spliced isoforms (Tsuji)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 splicing 4559 106.4 969 - 1997 9378725
  • PACE4AI isoform a
  • 15 splicing 3254 71.6 652 - 1997 9378725
  • PACE4C
  • not secreted
  • 20 splicing 3372 107.1 975 - 1997 9378725
  • PACE4EI isoform g
  • distinct C terminus
  • 19 splicing 3333 105.6 962 - 1997 9378725
  • PACE4EII isoform h
  • distinct C terminus
  • 21 splicing 4520 105.8 956 - 1997 9378725
  • PACE4AII isoform b
  • 10 splicing 2302 - 487 - 1997 9378725
  • PACE4B
  • distinct C terminus
  • 14 splicing 3208 - 623 - 1997 9378725
  • PACE4CS isoform e
  • distinct C terminus not secreted
  • 14 - 2358 - 664 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  predominantly Homo sapiens
    Nervousnervecranial nerveoptic nerve   Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia Homo sapiens
    cell lineage ameloblasts and odotonblasts
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text in the developing olfactory bulb, heart, liver, placenta and syncitiotrophoblast
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a preprodomain
  • a subtilisin-like catalytic
  • serine protease domain Ca2+ dependent
  • conserved P an (hemo B) domain
  • a furin-like cysteine-rich region
  • a transmembrane anchor and a cytoplasmic domain
  • a C-terminal cysteine-rich domain (CRD), functioning as a cell surface anchor favoring the processing of their cognate surface-anchored substrates, including endothelial lipase
  • isoforms Precursor autocatalytically activated
    HOMOLOGY
    Homologene
    FAMILY
  • proprotein convertase subtilisin kexin-like (SPC) subtilase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • paired basic amino-acid residue cleaving enzyme 4
  • involved in the dentinogenesis (via the activation of BMP)
  • proprotein convertase responsible for activation of aggrecanases in osteoarthritic and cytokine-stimulated cartilage
  • its activation may modulate the bioactivity of proteins secreted in the optic nerve head and retina
  • can play an important role in myogenic differentiation
  • through its association with the IGF-II pathway
  • proprotein convertase (PC) responsible for cleaving and activating proteins that contribute to enhance tumor progression
  • protease that cleaves the left–right axis determining protein NODAL
  • FURIN, PCSK5, and PCSK6 process two triglyceride lipase family members, endothelial lipase and lipoprotein lipase, which are important for HDL remodeling
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    cell-cell signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein ASCL1
    cell & other
    REGULATION
    inhibited by ASCL1(key factor in the initiation of neural differentiation)
    repressed by ASCL2 in the placenta
    Other regulated by thyroid status
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly increased the susceptibility to carcinogenesis, leading to enhanced tumor cell proliferation and premature degradation of the basement membrane
    Susceptibility to cerebral asymmetry and dyslexia
    Variant & Polymorphism
  • SNP rs11855415 associated with reduced laterality of hand skill and dyslexia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS